Laboratory Medicine
Test Directory / Familial Hypercholesterolaemia Gene Testing
Familial Hypercholesterolaemia Gene Testing
EDTA
| Test | Familial Hypercholesterolaemia Gene Testing |
|---|---|
| Common Abbreviations | FH gene testing |
| Profile | NA |
| Tube type | EDTA |
| Clinical Indication | Used in the diagnosis of familial hypercholesterolaemia. Includes the analysis of LDLR, APOB, PCSK9 and LDLRAP1 genes |
| Specimen Type | Blood |
| Sample type | EDTA whole blood |
| Minimum Volume | 5mL |
| Special Precautions | A completed DNA request card must be sent with the samples. |
| Stability | Contact Referral Laboratory |
| Turnaround Time | Targeted screen: 2 weeks Full screen: 2 months |
| Laboratory | North East Thames Regional Genetics Service Level 6 Barclay House 37 Queen Square London WC1N 3BH 020 7762 6888 |
| Reference Interval | Contact Referral Laboratory |
| Limitations | Contact Referral Laboratory |
| Notes |
